IthaID: 3852

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 93 GTG>ATG [Val>Met] HGVS Name: HBA1:c.280G>A
Hb Name: Hb Qingcheng Protein Info: α1 93(FG5) Val>Met

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a 31-year-old female on a pre-marriage thalassemia screening program. Next-generation sequencing (long-range PCR and deep sequencing) revealed that the proband carried a mosaic variant with a level of 18.46%. Hb Qingcheng was not detected by HPLC and CE analysis assuming an unstable variant leading to α+-thal phenotype in the mosaic individual.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37976
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Wang RY, Jiang F, Xu LL, Li DZ, Mild α-Thalassemia Caused by a Mosaic α-Globin Gene Mutation., Hemoglobin, 45(2), 140-141, 2021 PubMed
Created on 2021-09-17 14:18:20, Last reviewed on 2022-08-24 10:53:57 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.